Associated Papers
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 2025
Evaluation of discrepancy between clot-based and chromogenic factor IX coagulation assays in non-severe hemophilia B patients and identification of the causing mutations.
Mahdavimand M et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2025
Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.
Bach KQ et al.
Journal of Blood Medicine, 2025
Clinical analysis and quality of life survey of hemophilia B patients in the central and western regions of China.
Wang W et al.
Frontiers in Pediatrics, 2024
Haemophilia B in Algeria: Realities and therapeutic perspectives.
Nekkal MS et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023
Comprehensive analysis of genotypes and phenotypes in 23 Chinese patients with hemophilia B: Identification of five novel variants.
Lu L et al.
International Journal of Laboratory Hematology, 2023
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R et al.
American Journal of Human Genetics, 2022
F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.
Branchini A et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Essential role of a carboxyl-terminal α-helix motif in the secretion of coagulation factor XI.
Hayakawa Y et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Molecular characterization of hemophilia B patients in Colombia.
Parrado Jara YA et al.
Molecular Genetics & Genomic Medicine, 2020
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK et al.
Molecular Genetics & Genomic Medicine, 2019
Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.
Balestra D et al.
International Journal of Molecular Sciences, 2019
The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII.
Andersen E et al.
Cell & Bioscience, 2019
The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.
Pignani S et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
Survey of the anti-factor IX immunoglobulin profiles in patients with hemophilia B using a fluorescence-based immunoassay.
Boylan B et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
A genetic analysis of 23 Chinese patients with hemophilia B.
Wang QY et al.
Scientific Reports, 2016
Factor IX mutations in hemophilia B patients from Liaoning Province, China.
Cao DH et al.
International Journal of Laboratory Hematology, 2014
Mutation analysis of a cohort of US patients with hemophilia B.
Li T et al.
American Journal of Hematology, 2014
Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.
Radic CP et al.
Thrombosis and Haemostasis, 2013
Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.
Hamasaki-Katagiri N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
[Giant hemophilic pseudotumors in brothers with non-severe hemophilia B].
Matsumura I et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 0